ClinVar Miner

Submissions for variant NM_002076.4(GNS):c.1200+1G>T

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003019425 SCV003319888 likely pathogenic Mucopolysaccharidosis, MPS-III-D 2022-08-05 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This variant has not been reported in the literature in individuals affected with GNS-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 10 of the GNS gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in GNS are known to be pathogenic (PMID: 20232353).
Institute of Human Genetics, University Hospital of Duesseldorf RCV003019425 SCV004046712 likely pathogenic Mucopolysaccharidosis, MPS-III-D criteria provided, single submitter not provided

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